Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001290496 | SCV001478535 | likely pathogenic | Glanzmann thrombasthenia | 2023-11-02 | reviewed by expert panel | curation | The ITGB3 missense variant NM_000212.3:c.647A>G replaces the tyrosine residue with a cysteine residue (p.Tyr216Cys). This variant has been observed in homozygosity in a proband (GT-4, PMID: 25539746) with a phenotype specific for Glanzmann's thrombasthenia (PP4_moderate) and in heterozygosity in an individual with a second pathogenic ITGB3 variant in trans (GT-11, PMID: 25539746; PM3). This variant has not been reported in population databases (PM2_supporting) and is predicted to be damaging by in silico tools (REVEL 0.953; PP3). In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM3, PP4_moderate, PM2_supporting, PP3. |
ISTH- |
RCV002222694 | SCV002500894 | likely pathogenic | Glanzmann thrombasthenia 2 | criteria provided, single submitter | clinical testing |